Canonical Allele Identifier: CA117447377
Gene: NIPBL-DT HGNC NCBI

Linked Data

dbSNP Id: rs919030250

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.36876596G>A , CM000667.2:g.36876596G>A GRCh38
NC_000005.9:g.36876698G>A , CM000667.1:g.36876698G>A GRCh37
NC_000005.8:g.36912455G>A NCBI36
NG_006987.1:g.4714G>A
NG_006987.2:g.4714G>A

Transcript Alleles

HGVS Amino-acid Change
NR_046262.1:n.99C>T